• Gene id: 11073

Gene Summary

• Gene Symbol: TOPBP1   Gene   UCSC   Ensembl
• Aliases: Dpb11, TOP2BP1
• Gene name: DNA topoisomerase II binding protein 1
• Alternate names: DNA topoisomerase 2-binding protein 1, DNA topoisomerase II-beta-binding protein 1, topoisomerase (DNA) II binding protein 1,
• Gene location: 3q22.1 (7686070: 7703501)     Exons: 13     NC_000017.11
• Gene summary(Entrez): This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA st
• OMIM: 607760

Protein Summary

• Protein general information: Q92547  
  • Name: DNA topoisomerase 2 binding protein 1 (DNA topoisomerase II beta binding protein 1) (TopBP1) (DNA topoisomerase II binding protein 1)
  • Length: 1522  
  • Mass: 170679
  • Tissue specificity: Highly expressed in heart, brain, placenta, lung and kidney. {ECO
• Sequence:

  MSRNDKEPFFVKFLKSSDNSKCFFKALESIKEFQSEEYLQIITEEEALKIKENDRSLYICDPFSGVVFDHLKKLG
  CRIVGPQVVIFCMHHQRCVPRAEHPVYNMVMSDVTISCTSLEKEKREEVHKYVQMMGGRVYRDLNVSVTHLIAGE
  VGSKKYLVAANLKKPILLPSWIKTLWEKSQEKKITRYTDINMEDFKCPIFLGCIICVTGLCGLDRKEVQQLTVKH
  GGQYMGQLKMNECTHLIVQEPKGQKYECAKRWNVHCVTTQWFFDSIEKGFCQDESIYKTEPRPEAKTMPNSSTPT
  SQINTIDSRTLSDVSNISNINASCVSESICNSLNSKLEPTLENLENLDVSAFQAPEDLLDGCRIYLCGFSGRKLD
  KLRRLINSGGGVRFNQLNEDVTHVIVGDYDDELKQFWNKSAHRPHVVGAKWLLECFSKGYMLSEEPYIHANYQPV
  EIPVSHKPESKAALLKKKNSSFSKKDFAPSEKHEQADEDLLSQYENGSSTVVEAKTSEARPFNDSTHAEPLNDST
  HISLQEENQSSVSHCVPDVSTITEEGLFSQKSFLVLGFSNENESNIANIIKENAGKIMSLLSRTVADYAVVPLLG
  CEVEATVGEVVTNTWLVTCIDYQTLFDPKSNPLFTPVPVMTGMTPLEDCVISFSQCAGAEKESLTFLANLLGASV
  QEYFVRKSNAKKGMFASTHLILKERGGSKYEAAKKWNLPAVTIAWLLETARTGKRADESHFLIENSTKEERSLET
  EITNGINLNSDTAEHPGTRLQTHRKTVVTPLDMNRFQSKAFRAVVSQHARQVAASPAVGQPLQKEPSLHLDTPSK
  FLSKDKLFKPSFDVKDALAALETPGRPSQQKRKPSTPLSEVIVKNLQLALANSSRNAVALSASPQLKEAQSEKEE
  APKPLHKVVVCVSKKLSKKQSELNGIAASLGADYRWSFDETVTHFIYQGRPNDTNREYKSVKERGVHIVSEHWLL
  DCAQECKHLPESLYPHTYNPKMSLDISAVQDGRLCNSRLLSAVSSTKDDEPDPLILEENDVDNMATNNKESAPSN
  GSGKNDSKGVLTQTLEMRENFQKQLQEIMSATSIVKPQGQRTSLSRSGCNSASSTPDSTRSARSGRSRVLEALRQ
  SRQTVPDVNTEPSQNEQIIWDDPTAREERARLASNLQWPSCPTQYSELQVDIQNLEDSPFQKPLHDSEIAKQAVC
  DPGNIRVTEAPKHPISEELETPIKDSHLIPTPQAPSIAFPLANPPVAPHPREKIITIEETHEELKKQYIFQLSSL
  NPQERIDYCHLIEKLGGLVIEKQCFDPTCTHIVVGHPLRNEKYLASVAAGKWVLHRSYLEACRTAGHFVQEEDYE
  WGSSSILDVLTGINVQQRRLALAAMRWRKKIQQRQESGIVEGAFSGWKVILHVDQSREAGFKRLLQSGGAKVLPG
  HSVPLFKEATHLFSDLNKLKPDDSGVNIAEAAAQNVYCLRTEYIADYLMQESPPHVENYCLPEAISFIQNNKELG
  TGLSQKRKAPTEKNKIKRPRVH

• Structural information:
  • Protein Domains: (101..18-)
    (/note="BRCT-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (195..28-)
    (/note="BRCT-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (354..44-)
    (/note="BRCT-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (-)
  • Interpro: IPR001357  IPR036420  IPR035960  
  • Prosite: PS50172
  • PDB: 1WF6 2XNH 2XNK 3AL2 3AL3 3JVE 3OLC 3PD7 3UEN 3UEO 6RML 6RMM
  • PDBsum: 1WF6 2XNH 2XNK 3AL2 3AL3 3JVE 3OLC 3PD7 3UEN 3UEO 6RML 6RMM
  • DIP: 24263
  • STRING: ENSP00000260810
• Other Databases: GeneCards:  TOPBP1  Malacards:  TOPBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007095	mitotic G2 DNA damage checkpoint	IBA	biological process
GO:0033314	mitotic DNA replication checkpoint	IBA	biological process
GO:0006270	DNA replication initiation	IBA	biological process
GO:0005694	chromosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0008022	protein C-terminus binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006259	DNA metabolic process	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
30528234	Spermatogenetic defects				Male infertility